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De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Chilton, Ilana; Okur, Volkan; Vitiello, Giuseppina; Selicorni, Angelo; Mariani, Milena; Goldenberg, Alice; Husson, Thomas; Campion, Dominique; Lichtenbelt, Klaske D; van Gassen, Koen; Steinraths, Michelle; Rice, Jennifer; Roeder, Elizabeth R; Littlejohn, Rebecca O; Srour, Myriam; Sebire, Guillaume; Accogli, Andrea; Héron, Delphine; Heide, Solveig; Nava, Caroline; Depienne, Christel; Larson, Austin; Niyazov, Dmitriy; Azage, Meron; Hoganson, George; Burton, Jennifer; Rush, Eric T; Jenkins, Janda L; Saunders, Carol J; Thiffault, Isabelle; Alaimo, Joseph T; Fleischer, Julie; Groepper, Daniel; Gripp, Karen W; Chung, Wendy K.
Afiliação
  • Chilton I; Department of Pediatrics, Columbia University, New York, New York.
  • Okur V; Department of Pediatrics, Columbia University, New York, New York.
  • Vitiello G; Department of Translational Medicine, Federico II University, Naples, Italy.
  • Selicorni A; Pediatric Department, ASST Lariana, Sant'Anna Hospital, Como, Italy.
  • Mariani M; Pediatric Department, ASST Lariana, Sant'Anna Hospital, Como, Italy.
  • Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
  • Husson T; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
  • Campion D; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
  • Lichtenbelt KD; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van Gassen K; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Steinraths M; Department of Medical Genetics, University of British Columbia, Canada.
  • Rice J; Department of Medical Genetics, University of British Columbia, Canada.
  • Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas.
  • Littlejohn RO; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas.
  • Srour M; McGill University Health Center, Montreal Children's Hospital, Canada.
  • Sebire G; McGill University Health Center, Montreal Children's Hospital, Canada.
  • Accogli A; Medical Genetics Unit, IRCCS Ospedale Policlinico San Martino and DINOGMI-Università degli Studi di Genova, Genoa, Italy.
  • Héron D; Département de Génétique et de Cytogénétique; Centre de Référence Déficiences Intellectuelles de Causes Rares; GRC UPMC, Déficience Intellectuelle et Autisme, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France.
  • Heide S; Département de Génétique et de Cytogénétique; Centre de Référence Déficiences Intellectuelles de Causes Rares; GRC UPMC, Déficience Intellectuelle et Autisme, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France.
  • Nava C; Département de Génétique et de Cytogénétique; Centre de Référence Déficiences Intellectuelles de Causes Rares; GRC UPMC, Déficience Intellectuelle et Autisme, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France.
  • Depienne C; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, Paris, France.
  • Larson A; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, Paris, France.
  • Niyazov D; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Azage M; Department of Pediatrics-Clinical Genetics and Metabolism, University of Colorado, Colorado, USA.
  • Hoganson G; Department of Genetics, Ochsner Health System, Louisiana.
  • Burton J; Department of Genetics, Ochsner Health System, Louisiana.
  • Rush ET; Department of Pediatrics, University of Illinois, Chicago, Illinois, 60612, USA.
  • Jenkins JL; Department of Pediatrics, University of Illinois, Chicago, Illinois, 60612, USA.
  • Saunders CJ; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri.
  • Thiffault I; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri.
  • Alaimo JT; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri.
  • Fleischer J; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri.
  • Groepper D; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri.
  • Gripp KW; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, Illinois, 62702, USA.
  • Chung WK; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, Illinois, 62702, USA.
Am J Med Genet A ; 182(5): 962-973, 2020 05.
Article em En | MEDLINE | ID: mdl-32031333
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Miotonina Proteína Quinase / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Miotonina Proteína Quinase / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article